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| Hereditary ataxia with onset in adulthood v1.180 | PEX2 | Louise Daugherty Phenotypes for gene: PEX2 were changed from PEROXISOME BIOGENESIS DISORDER 5B,614867 to Peroxisome biogenesis disorder 5B, 614867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Classified gene: PEX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.179 | PEX2 | Louise Daugherty Gene: pex2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.178 | PEX2 |
Nick Beauchamp gene: PEX2 was added gene: PEX2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 23430938; 7931872; 21392394 Phenotypes for gene: PEX2 were set to PEROXISOME BIOGENESIS DISORDER 5B,614867 Review for gene: PEX2 was set to GREEN gene: PEX2 was marked as current diagnostic Added comment: Three patients with PEX2 mutations either compound het or homozygous. Mild symptoms that included no cognitive impairment but does show gait ataxia, dysarthria, dysmetria, areflexia, and bilateral pes cavus. Sources: Expert Review |
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